Variant report

Variant	rs7827643
Chromosome Location	chr8:19615371-19615372
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr8:19615223-19615563	K562	blood:	n/a	n/a
2	CTCF	chr8:19615360-19615510	HAc	cerebellar:	n/a	n/a
3	CTCF	chr8:19615360-19615510	NHDF-neo	bronchial:	n/a	n/a
4	RAD21	chr8:19615185-19615796	Hela-S3	cervix:	n/a	n/a
5	BCL3	chr8:19615141-19615736	A549	lung:	n/a	n/a
6	TCF12	chr8:19614811-19616510	A549	lung:	n/a	n/a
7	ZMIZ1	chr8:19615326-19615512	K562	blood:	n/a	n/a
8	CTCF	chr8:19615321-19615550	MCF-7	breast:	n/a	chr8:19615513-19615526
9	RAD21	chr8:19615124-19615814	A549	lung:	n/a	n/a
10	RAD21	chr8:19615288-19615578	GM12878	blood:	n/a	n/a
11	CTCF	chr8:19615360-19615510	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr8:19615340-19615490	HPF	lung:	n/a	n/a
13	BRCA1	chr8:19615359-19615662	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr8:19615309-19615707	IMR90	lung:	n/a	n/a
15	CTCF	chr8:19615294-19615562	HepG2	liver:	n/a	chr8:19615513-19615526
16	CEBPB	chr8:19615304-19615776	K562	blood:	n/a	n/a
17	CTCF	chr8:19615185-19615635	H1-hESC	embryonic stem cell:	n/a	chr8:19615513-19615526
18	CTCF	chr8:19615308-19615577	Fibrobl	skin:	n/a	chr8:19615513-19615526
19	CTCF	chr8:19615360-19615510	HVMF	connective:	n/a	n/a
20	CTCF	chr8:19615290-19615555	GM19240	blood:	n/a	chr8:19615513-19615526
21	CTCF	chr8:19615300-19615450	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr8:19615340-19615490	HPAF	blood vessel:	n/a	n/a
23	SMC3	chr8:19615110-19615723	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr8:19615360-19615510	GM12875	blood:	n/a	n/a
25	CTCF	chr8:19615360-19615510	HBMEC	blood vessel:	n/a	n/a
26	REST	chr8:19615053-19615771	A549	lung:	n/a	chr8:19615237-19615250
27	CTCF	chr8:19615360-19615510	HRPEpiC	eye:	n/a	n/a
28	ZKSCAN1	chr8:19615223-19615661	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr8:19615124-19615713	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF2	chr8:19615152-19615691	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr8:19615340-19615490	Hela-S3	cervix:	n/a	n/a
32	MAFK	chr8:19615065-19615717	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr8:19615320-19615470	SAEC	small airway:	n/a	n/a
34	CTCF	chr8:19615300-19615450	NHEK	skin:	n/a	n/a
35	MAX	chr8:19612923-19615860	A549	lung:	n/a	chr8:19614299-19614306
36	SIN3AK20	chr8:19615252-19615588	A549	lung:	n/a	n/a
37	CTCF	chr8:19615325-19615560	GM12892	blood:	n/a	chr8:19615513-19615526
38	CTCF	chr8:19615164-19615634	H1-hESC	embryonic stem cell:	n/a	chr8:19615513-19615526
39	CTCF	chr8:19615360-19615510	GM12864	blood:	n/a	n/a
40	CTCF	chr8:19615340-19615490	GM12878	blood:	n/a	n/a
41	RAD21	chr8:19615299-19615510	K562	blood:	n/a	n/a
42	CTCF	chr8:19615360-19615510	HA-sp	spinal cord:	n/a	n/a
43	MAZ	chr8:19615095-19615606	K562	blood:	n/a	n/a
44	CTCF	chr8:19615240-19615390	GM12878	blood:	n/a	n/a
45	RAD21	chr8:19615255-19615762	A549	lung:	n/a	n/a
46	REST	chr8:19615230-19615729	A549	lung:	n/a	chr8:19615237-19615250
47	MXI1	chr8:19614990-19615596	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr8:19615226-19615545	HepG2	liver:	n/a	chr8:19615513-19615526
49	MAX	chr8:19614905-19615797	A549	lung:	n/a	n/a
50	RCOR1	chr8:19615042-19615739	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19497421..19499586-chr8:19613571..19616001,2	MCF-7	breast:
2	chr8:19534323..19537317-chr8:19613839..19616648,2	MCF-7	breast:

Variant related genes	Relation type
CSGALNACT1	TF binding region
ENSG00000253270	Chromatin interaction
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12114668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7838610	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7842981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv3343914	chr8:19613297-19615845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3443741	chr8:19613697-19616545	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3417669	chr8:19613772-19616120	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19612600-19615600	Active TSS	A549	lung
2	chr8:19613000-19616000	Active TSS	Brain Hippocampus Middle	brain
3	chr8:19613200-19615800	Active TSS	Right Atrium	heart
4	chr8:19613200-19616400	Active TSS	Brain Substantia Nigra	brain
5	chr8:19613400-19615400	Active TSS	Gastric	stomach
6	chr8:19613400-19615600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:19613400-19615600	Active TSS	Left Ventricle	heart
8	chr8:19613400-19615600	Active TSS	Right Ventricle	heart
9	chr8:19613400-19615800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:19613400-19615800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr8:19613600-19615400	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr8:19613600-19615800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:19613600-19615800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr8:19613600-19615800	Active TSS	Osteobl	bone
15	chr8:19613800-19615400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:19613800-19615600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr8:19613800-19615600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:19613800-19615600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:19613800-19615600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
20	chr8:19613800-19615800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr8:19613800-19615800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:19613800-19615800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr8:19613800-19615800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:19614000-19615400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:19614000-19615400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:19614000-19615400	Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr8:19614000-19615400	Active TSS	Primary T cells from cord blood	blood
28	chr8:19614000-19615400	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr8:19614000-19615400	Active TSS	Aorta	Aorta
30	chr8:19614000-19615400	Active TSS	Hela-S3	cervix
31	chr8:19614000-19615600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:19614000-19615600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:19614000-19615600	Active TSS	Colon Smooth Muscle	Colon
34	chr8:19614000-19615600	Active TSS	Fetal Kidney	kidney
35	chr8:19614000-19615600	Active TSS	Lung	lung
36	chr8:19614000-19615800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:19614000-19615800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr8:19614000-19616000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr8:19614200-19615400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr8:19614200-19615400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:19614200-19615400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
42	chr8:19614200-19615400	Bivalent/Poised TSS	Small Intestine	intestine
43	chr8:19614200-19615400	Bivalent/Poised TSS	HSMMtube	muscle
44	chr8:19614200-19615600	Bivalent/Poised TSS	HepG2	liver
45	chr8:19614200-19615600	Bivalent/Poised TSS	HSMM	muscle
46	chr8:19614200-19615800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr8:19614400-19615400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:19614400-19615400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:19614400-19615400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr8:19614400-19615400	Active TSS	Esophagus	oesophagus

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